Background/Objectives: Li-Fraumeni syndrome (LFS) is a disease caused by a germline mutation of the tp53 gene that predisposes the individual to various malignancies, including breast cancer. Its impact on treatment modalities in oncology remains poorly studied. In this critical review, we aimed to retrieve and analyze available data concerning adjuvant radiotherapy in early breast cancer for LFS patients, as well as the current guidelines.Methods: We reviewed articles with LFS patient cohorts that reported secondary malignancy rates after breast adjuvant radiotherapy. Rates of recurrence, when available, were also included. Furthermore, we discussed contemporary radiobiological evidence and guidelines on the subject.Results: Six retrospective studies were reviewed. Five reported much higher rates of secondary malignancies compared to the general population. Additionally, there was no clear trend toward increased locoregional control after adjuvant radiotherapy. Radiobiological data suggest increased radioresistance and radiosensitivity within p53-mutated cells. Guidelines recommend avoiding radiotherapy in LFS patients when possible.Conclusions: Currently, there is no standard treatment or cure for LFS or a germline variant of the TP53 gene. With few exceptions, cancers in people with LFS are treated the same way as cancers in other patients, but research continues into the best way to manage cancers involved in LFS.
背景/目的：Li-Fraumeni综合征（LFS）是一种由tp53基因种系突变引起的疾病，使个体易患包括乳腺癌在内的多种恶性肿瘤。其对肿瘤治疗模式的影响目前研究尚不充分。在本篇批判性综述中，我们旨在检索并分析关于LFS患者早期乳腺癌辅助放疗的现有数据以及现行指南。 方法：我们回顾了报告LFS患者队列在接受乳腺癌辅助放疗后二次恶性肿瘤发生率的文献。在数据可得的情况下，复发率也被纳入分析。此外，我们还讨论了该领域的当代放射生物学证据及相关指南。 结果：共回顾了六项回顾性研究。其中五项研究显示，与普通人群相比，LFS患者的二次恶性肿瘤发生率显著更高。此外，辅助放疗并未显示出明确的局部区域控制率提高趋势。放射生物学数据表明，p53突变细胞可能同时表现出放射抗性和放射敏感性增强。指南建议在可能的情况下，应避免对LFS患者进行放疗。 结论：目前，对于LFS或TP53基因种系变异尚无标准治疗方法或治愈手段。除少数例外情况，LFS患者的癌症治疗方式与其他患者相同，但关于如何最佳管理LFS相关癌症的研究仍在持续进行中。
Adjuvant Radiotherapy and Breast Cancer in Patients with Li-Fraumeni Syndrome: A Critical Review
肿瘤(癌症)患者之家